UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254324C>A | CA379264155 | HBG2 | c.283G>T (p.Asp95Tyr) c.118G>T (p.Asp40Tyr) c.253G>T (p.Asp85Tyr) c.*152G>T (n.*152G>T) c.72C>A (p.Val24=) | |
| 11 | g.5254324C= | CA1949577271 | HBG2 | c.283G= (p.Asp95=) c.118G= (p.Asp40=) c.253G= (p.Asp85=) c.*152G= (n.*152G=) c.72C= (p.Val24=) | |
| 11 | g.5254324C>G | CA379264156 | HBG2 | c.283G>C (p.Asp95His) c.118G>C (p.Asp40His) c.253G>C (p.Asp85His) c.*152G>C (n.*152G>C) c.72C>G (p.Val24=) | |
| 11 | g.5254324C>T | CA124504 | HBG2 | c.283G>A (p.Asp95Asn) c.118G>A (p.Asp40Asn) c.253G>A (p.Asp85Asn) c.*152G>A (n.*152G>A) c.72C>T (p.Val24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254325A>C | CA379264157 | HBG2 | c.282T>G (p.Cys94Trp) c.117T>G (p.Cys39Trp) c.252T>G (p.Cys84Trp) c.*151T>G (n.*151T>G) c.73A>C (p.Thr25Pro) | |
| 11 | g.5254325A>G | CA379264158 | HBG2 | c.282T>C (p.Cys94=) c.117T>C (p.Cys39=) c.252T>C (p.Cys84=) c.*151T>C (n.*151T>C) c.73A>G (p.Thr25Ala) | dbSNP |
| 11 | g.5254325A>T | CA379264159 | HBG2 | c.282T>A (p.Cys94Ter) c.117T>A (p.Cys39Ter) c.252T>A (p.Cys84Ter) c.*151T>A (n.*151T>A) c.73A>T (p.Thr25Ser) | |
| 11 | g.5254326C>A | CA379264160 | HBG2 | c.281G>T (p.Cys94Phe) c.116G>T (p.Cys39Phe) c.251G>T (p.Cys84Phe) c.*150G>T (n.*150G>T) c.74C>A (p.Thr25Lys) | |
| 11 | g.5254326C>G | CA379264162 | HBG2 | c.281G>C (p.Cys94Ser) c.116G>C (p.Cys39Ser) c.251G>C (p.Cys84Ser) c.*150G>C (n.*150G>C) c.74C>G (p.Thr25Arg) | gnomAD v4 |
| 11 | g.5254326C>T | CA379264161 | HBG2 | c.281G>A (p.Cys94Tyr) c.116G>A (p.Cys39Tyr) c.251G>A (p.Cys84Tyr) c.*150G>A (n.*150G>A) c.74C>T (p.Thr25Ile) | |
| 11 | g.5254327A= | CA1949577277 | HBG2 | c.280T= (p.Cys94=) c.115T= (p.Cys39=) c.250T= (p.Cys84=) c.*149T= (n.*149T=) c.75A= (p.Thr25=) | |
| 11 | g.5254327A>C | CA379264163 | HBG2 | c.280T>G (p.Cys94Gly) c.115T>G (p.Cys39Gly) c.250T>G (p.Cys84Gly) c.*149T>G (n.*149T>G) c.75A>C (p.Thr25=) | |
| 11 | g.5254327A>G | CA217121215 | HBG2 | c.280T>C (p.Cys94Arg) c.115T>C (p.Cys39Arg) c.250T>C (p.Cys84Arg) c.*149T>C (n.*149T>C) c.75A>G (p.Thr25=) | dbSNP gnomAD v4 |
| 11 | g.5254327A>T | CA379264164 | HBG2 | c.280T>A (p.Cys94Ser) c.115T>A (p.Cys39Ser) c.250T>A (p.Cys84Ser) c.*149T>A (n.*149T>A) c.75A>T (p.Thr25=) | |
| 11 | g.5254328G>A | CA379264165 | HBG2 | c.279C>T (p.His93=) c.114C>T (p.His38=) c.249C>T (p.His83=) c.*148C>T (n.*148C>T) c.76G>A (p.Val26Met) | gnomAD v4 |
| 11 | g.5254328G>C | CA379264166 | HBG2 | c.279C>G (p.His93Gln) c.114C>G (p.His38Gln) c.249C>G (p.His83Gln) c.*148C>G (n.*148C>G) c.76G>C (p.Val26Leu) | |
| 11 | g.5254328G>T | CA379264167 | HBG2 | c.279C>A (p.His93Gln) c.114C>A (p.His38Gln) c.249C>A (p.His83Gln) c.*148C>A (n.*148C>A) c.76G>T (p.Val26Leu) | |
| 11 | g.5254329T>A | CA379264168 | HBG2 | c.278A>T (p.His93Leu) c.113A>T (p.His38Leu) c.248A>T (p.His83Leu) c.*147A>T (n.*147A>T) c.77T>A (p.Val26Glu) | |
| 11 | g.5254329T>C | CA379264169 | HBG2 | c.278A>G (p.His93Arg) c.113A>G (p.His38Arg) c.248A>G (p.His83Arg) c.*147A>G (n.*147A>G) c.77T>C (p.Val26Ala) | gnomAD v4 |
| 11 | g.5254329T>G | CA379264170 | HBG2 | c.278A>C (p.His93Pro) c.113A>C (p.His38Pro) c.248A>C (p.His83Pro) c.*147A>C (n.*147A>C) c.77T>G (p.Val26Gly) | |
| 11 | g.5254330G>A | CA124554 | HBG2 | c.277C>T (p.His93Tyr) c.112C>T (p.His38Tyr) c.247C>T (p.His83Tyr) c.*146C>T (n.*146C>T) c.78G>A (p.Val26=) | ClinVar dbSNP |
| 11 | g.5254330G>C | CA379264171 | HBG2 | c.277C>G (p.His93Asp) c.112C>G (p.His38Asp) c.247C>G (p.His83Asp) c.*146C>G (n.*146C>G) c.78G>C (p.Val26=) | |
| 11 | g.5254330G= | CA1949577281 | HBG2 | c.277C= (p.His93=) c.112C= (p.His38=) c.247C= (p.His83=) c.*146C= (n.*146C=) c.78G= (p.Val26=) | |
| 11 | g.5254330G>T | CA379264172 | HBG2 | c.277C>A (p.His93Asn) c.112C>A (p.His38Asn) c.247C>A (p.His83Asn) c.*146C>A (n.*146C>A) c.78G>T (p.Val26=) | |
| 11 | g.5254331C>A | CA379264175 | HBG2 | c.276G>T (p.Leu92=) c.111G>T (p.Leu37=) c.246G>T (p.Leu82=) c.*145G>T (n.*145G>T) c.79C>A (p.Gln27Lys) | |
| 11 | g.5254331C>G | CA379264173 | HBG2 | c.276G>C (p.Leu92=) c.111G>C (p.Leu37=) c.246G>C (p.Leu82=) c.*145G>C (n.*145G>C) c.79C>G (p.Gln27Glu) | |
| 11 | g.5254331C>T | CA379264174 | HBG2 | c.276G>A (p.Leu92=) c.111G>A (p.Leu37=) c.246G>A (p.Leu82=) c.*145G>A (n.*145G>A) c.79C>T (p.Gln27Ter) | |
| 11 | g.5254332A= | CA1949577286 | HBG2 | c.275T= (p.Leu92=) c.110T= (p.Leu37=) c.245T= (p.Leu82=) c.*144T= (n.*144T=) c.80A= (p.Gln27=) | |
| 11 | g.5254332A>C | CA379264176 | HBG2 | c.275T>G (p.Leu92Arg) c.110T>G (p.Leu37Arg) c.245T>G (p.Leu82Arg) c.*144T>G (n.*144T>G) c.80A>C (p.Gln27Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254332A>G | CA379264177 | HBG2 | c.275T>C (p.Leu92Pro) c.110T>C (p.Leu37Pro) c.245T>C (p.Leu82Pro) c.*144T>C (n.*144T>C) c.80A>G (p.Gln27Arg) | dbSNP |
| 11 | g.5254332A>T | CA379264178 | HBG2 | c.275T>A (p.Leu92Gln) c.110T>A (p.Leu37Gln) c.245T>A (p.Leu82Gln) c.*144T>A (n.*144T>A) c.80A>T (p.Gln27Leu) | |
| 11 | g.5254333G>A | CA472633862 | HBG2 | c.274C>T (p.Leu92=) c.109C>T (p.Leu37=) c.244C>T (p.Leu82=) c.*143C>T (n.*143C>T) c.81G>A (p.Gln27=) | |
| 11 | g.5254333G>C | CA379264179 | HBG2 | c.274C>G (p.Leu92Val) c.109C>G (p.Leu37Val) c.244C>G (p.Leu82Val) c.*143C>G (n.*143C>G) c.81G>C (p.Gln27His) | |
| 11 | g.5254333G>T | CA379264180 | HBG2 | c.274C>A (p.Leu92Met) c.109C>A (p.Leu37Met) c.244C>A (p.Leu82Met) c.*143C>A (n.*143C>A) c.81G>T (p.Gln27His) | |
| 11 | g.5254334T>A | CA379264181 | HBG2 | c.273A>T (p.Glu91Asp) c.108A>T (p.Glu36Asp) c.243A>T (p.Glu81Asp) c.*142A>T (n.*142A>T) c.82T>A (p.Phe28Ile) | |
| 11 | g.5254334T>C | CA379264182 | HBG2 | c.273A>G (p.Glu91=) c.108A>G (p.Glu36=) c.243A>G (p.Glu81=) c.*142A>G (n.*142A>G) c.82T>C (p.Phe28Leu) | dbSNP COSMIC |
| 11 | g.5254334T>G | CA379264183 | HBG2 | c.273A>C (p.Glu91Asp) c.108A>C (p.Glu36Asp) c.243A>C (p.Glu81Asp) c.*142A>C (n.*142A>C) c.82T>G (p.Phe28Val) | |
| 11 | g.5254334T= | CA1949577289 | HBG2 | c.273A= (p.Glu91=) c.108A= (p.Glu36=) c.243A= (p.Glu81=) c.*142A= (n.*142A=) c.82T= (p.Phe28=) | |
| 11 | g.5254335T>A | CA379264184 | HBG2 | c.272A>T (p.Glu91Val) c.107A>T (p.Glu36Val) c.242A>T (p.Glu81Val) c.*141A>T (n.*141A>T) c.83T>A (p.Phe28Tyr) | |
| 11 | g.5254335T>C | CA379264185 | HBG2 | c.272A>G (p.Glu91Gly) c.107A>G (p.Glu36Gly) c.242A>G (p.Glu81Gly) c.*141A>G (n.*141A>G) c.83T>C (p.Phe28Ser) | gnomAD v4 |
| 11 | g.5254335T>G | CA379264186 | HBG2 | c.272A>C (p.Glu91Ala) c.107A>C (p.Glu36Ala) c.242A>C (p.Glu81Ala) c.*141A>C (n.*141A>C) c.83T>G (p.Phe28Cys) | |
| 11 | g.5254336C>A | CA379264189 | HBG2 | c.271G>T (p.Glu91Ter) c.106G>T (p.Glu36Ter) c.241G>T (p.Glu81Ter) c.*140G>T (n.*140G>T) c.84C>A (p.Phe28Leu) | |
| 11 | g.5254336C>G | CA379264188 | HBG2 | c.271G>C (p.Glu91Gln) c.106G>C (p.Glu36Gln) c.241G>C (p.Glu81Gln) c.*140G>C (n.*140G>C) c.84C>G (p.Phe28Leu) | |
| 11 | g.5254336C>T | CA379264187 | HBG2 | c.271G>A (p.Glu91Lys) c.106G>A (p.Glu36Lys) c.241G>A (p.Glu81Lys) c.*140G>A (n.*140G>A) c.84C>T (p.Phe28=) | COSMIC |
| 11 | g.5254337A>C | CA379264190 | HBG2 | c.270T>G (p.Ser90Arg) c.105T>G (p.Ser35Arg) c.240T>G (p.Ser80Arg) c.*139T>G (n.*139T>G) c.85A>C (p.Thr29Pro) | |
| 11 | g.5254337A>G | CA379264192 | HBG2 | c.270T>C (p.Ser90=) c.105T>C (p.Ser35=) c.240T>C (p.Ser80=) c.*139T>C (n.*139T>C) c.85A>G (p.Thr29Ala) | |
| 11 | g.5254337A>T | CA379264191 | HBG2 | c.270T>A (p.Ser90Arg) c.105T>A (p.Ser35Arg) c.240T>A (p.Ser80Arg) c.*139T>A (n.*139T>A) c.85A>T (p.Thr29Ser) | |
| 11 | g.5254338C>A | CA379264193 | HBG2 | c.269G>T (p.Ser90Ile) c.104G>T (p.Ser35Ile) c.239G>T (p.Ser80Ile) c.*138G>T (n.*138G>T) c.86C>A (p.Thr29Asn) | |
| 11 | g.5254338C= | CA1949577294 | HBG2 | c.269G= (p.Ser90=) c.104G= (p.Ser35=) c.239G= (p.Ser80=) c.*138G= (n.*138G=) c.86C= (p.Thr29=) | |
| 11 | g.5254338C>G | CA5840255 | HBG2 | c.269G>C (p.Ser90Thr) c.104G>C (p.Ser35Thr) c.239G>C (p.Ser80Thr) c.*138G>C (n.*138G>C) c.86C>G (p.Thr29Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |